1726[HGNC] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
Select item 146301	GRCh38/hg38 20p13(chr20:3510905-3891967)x3	ADAM33, ADISSP +33 more	Copy number gain	See cases	GUncertain significance
Select item 2305093	NM_021873.4(CDC25B):c.10C>T (p.Pro4Ser)	CDC25B, LOC130065339 (P4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380647	NM_021873.4(CDC25B):c.187G>A (p.Ala63Thr)	CDC25B (A63T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271887	NM_021873.4(CDC25B):c.187G>T (p.Ala63Ser)	CDC25B (A63S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264956	NM_021873.4(CDC25B):c.232C>T (p.Leu78Phe)	CDC25B (L14F +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2243202	NM_021873.4(CDC25B):c.355A>G (p.Met119Val)	CDC25B (M41V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2597452	NM_021873.4(CDC25B):c.367A>G (p.Met123Val)	CDC25B (M109V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264952	NM_021873.4(CDC25B):c.424G>A (p.Glu142Lys)	CDC25B (E142K +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230254	NM_021873.4(CDC25B):c.443G>A (p.Arg148His)	CDC25B (R134H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3140813	NM_021873.4(CDC25B):c.484G>A (p.Val162Met)	CDC25B, LOC125384565 (V148M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2561656	NM_021873.4(CDC25B):c.491G>A (p.Arg164Gln)	CDC25B, LOC125384565 (R100Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2652190	NM_021873.4(CDC25B):c.516C>T (p.Pro172=)	CDC25B	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2311741	NM_021873.4(CDC25B):c.520G>A (p.Gly174Ser)	CDC25B (G174S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2459756	NM_021873.4(CDC25B):c.587G>C (p.Gly196Ala)	CDC25B (G43A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287708	NM_021873.4(CDC25B):c.712A>G (p.Ser238Gly)	CDC25B (S197G +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336758	NM_021873.4(CDC25B):c.745A>C (p.Ser249Arg)	CDC25B (S171R +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515807	NM_021873.4(CDC25B):c.761G>A (p.Gly254Asp)	CDC25B (G62D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264949	NM_021873.4(CDC25B):c.763C>T (p.Arg255Cys)	CDC25B (R191C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535266	NM_021873.4(CDC25B):c.778C>T (p.Pro260Ser)	CDC25B (P260S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264953	NM_021873.4(CDC25B):c.835T>G (p.Leu279Val)	CDC25B (L126V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140815	NM_021873.4(CDC25B):c.952C>T (p.Leu318Phe)	CDC25B, LOC126862955 (L206F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597131	NM_021873.4(CDC25B):c.982G>A (p.Val328Met)	CDC25B, LOC126862955 (V314M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391097	NM_021873.4(CDC25B):c.988C>T (p.Arg330Trp)	CDC25B, LOC126862955 (R138W +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368595	NM_021873.4(CDC25B):c.1001A>G (p.Lys334Arg)	CDC25B, LOC126862955 (K142R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140809	NM_021873.4(CDC25B):c.1034C>T (p.Pro345Leu)	CDC25B, LOC126862955 (P233L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140810	NM_021873.4(CDC25B):c.1060G>A (p.Val354Met)	CDC25B, LOC126862955 (V201M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264951	NM_021873.4(CDC25B):c.1106G>A (p.Arg369His)	CDC25B, LOC126862955 (R216H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140811	NM_021873.4(CDC25B):c.1160G>A (p.Ser387Asn)	CDC25B, LOC126862955 (S323N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264950	NM_021873.4(CDC25B):c.1410C>G (p.Ser470Arg)	CDC25B (S278R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264955	NM_021873.4(CDC25B):c.1444A>G (p.Ile482Val)	CDC25B (I329V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140812	NM_021873.4(CDC25B):c.1510C>G (p.Arg504Gly)	CDC25B (R463G +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296632	NM_021873.4(CDC25B):c.1528G>A (p.Asp510Asn)	CDC25B (D318N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385960	NM_021873.4(CDC25B):c.1702C>T (p.Arg568Trp)	CDC25B (R376W +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392738	NM_021873.4(CDC25B):c.1703G>A (p.Arg568Gln)	CDC25B (R477Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230447	NM_021873.4(CDC25B):c.1709G>A (p.Arg570Gln)	CDC25B (R417Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223107	NM_021873.4(CDC25B):c.1711C>T (p.Arg571Trp)	CDC25B (R493W +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	DNAAF9, FERMT1 +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	PTPRA, RAD21L1 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	MIR1292, MRPS26 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADAM33, ADISSP +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	CDS2, CENPB +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 1706505	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	SPEF1, UBOX5 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1054510	NC_000020.10:g.(?_3190178)_(3903961_?)dup	ADAM33, ADISSP +14 more	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 979728	GRCh37/hg19 20p13(chr20:3116478-4199486)x3	FASTKD5, CDC25B +20 more	Copy number gain	not provided	GUncertain significance
Select item 979727	GRCh37/hg19 20p13(chr20:3092739-4939933)x3	CDC25B, ADAM33 +25 more	Copy number gain	not provided	GUncertain significance
Select item 979576	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	OXT, LZTS3 +26 more	Copy number gain	not provided	GUncertain significance
Select item 816106	GRCh37/hg19 20p13(chr20:2806498-4007381)x1	CDC25B, AVP +26 more	Copy number loss	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686194	GRCh37/hg19 20p13(chr20:3654723-3796884)x3	ADAM33, C20orf27 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADISSP +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443254	GRCh37/hg19 20p13(chr20:2802218-4019837)x1	ADAM33, ADISSP +26 more	Copy number loss	See cases	GUncertain significance
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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Items: 79